Previously, we reported the myelin regulatory factor (MYRF) as a candidate gene for nanophthalmos. We have also produced Myrf knockdown (Myrf+/−) mouse strain to investigate the cellular and molecular phenotypes of reduced MYRF expression in the retina. Myrf+/− mouse strain was generated using the CRISPR/Cas9 system. Optomotor response system, electroretinogram (ERG), spectral-domain optical coherence tomography (SD-OCT), histology, and immunohistochemistry were performed to evaluate retinal spatial vision, electrophysiological function, retinal thickness, and pathological changes in cone or rod photoreceptors, respectively. RNA sequencing (RNA-seq) was performed to investigate the underlying molecular mechanism linking Myrf deficiency with photoreceptor defects. The genotype and phenotype of CRISPR/Cas9-induced Myrf+/− mice and their offspring were comprehensively investigated. Photoreceptor defects were detected in the retinas of Myrf+/− mice. Visual acuity and ERG responses were decreased in Myrf+/− mice compared with the control mice (Myrf+/+). The loss of cone and rod neurons was proportional to the decreased outer nuclear layer (ONL) thickness. Moreover, RNA-seq revealed that phototransduction and estrogen signaling pathways played important roles in the Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Myrf+/− mouse strain provides a good model to investigate the function of the MYRF gene. Photoreceptor defects with impaired functions of spatial vision and retinal electrophysiology indicate an important role played by MYRF in retinal development. Alterations in phototransduction and estrogen signaling pathways play important roles in linking Myrf deficiency with retinal photoreceptor defects.

中文翻译：

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髓鞘调节因子缺乏与小鼠视网膜光感受器缺陷有关

此前，我们报道了髓磷脂调节因子（MYRF) 作为 nanophthalmos 的候选基因。我们还制作了默夫击倒 （默夫+/-) 小鼠品系研究减少的细胞和分子表型MYRF视网膜中的表达。默夫+/-使用 CRISPR/Cas9 系统生成小鼠品系。分别进行视运动反应系统、视网膜电图 (ERG)、光谱域光学相干断层扫描 (SD-OCT)、组织学和免疫组织化学来评估视网膜空间视觉、电生理功能、视网膜厚度和视锥或视杆光感受器的病理变化。进行 RNA 测序 (RNA-seq) 以研究潜在的分子机制连接默夫缺乏与光感受器缺陷。CRISPR/Cas9 诱导的基因型和表型默夫+/-对小鼠及其后代进行了全面调查。在视网膜中检测到光感受器缺陷默夫+/-老鼠。视力和 ERG 反应在默夫+/-小鼠与对照小鼠相比（默夫+/+）。锥和杆神经元的损失与减少的外核层 (ONL) 厚度成正比。此外，RNA-seq 揭示了光转导和雌激素信号通路在京都基因和基因组百科全书 (KEGG) 分析中发挥了重要作用。默夫+/-小鼠品系提供了一个很好的模型来研究MYRF基因。空间视觉和视网膜电生理功能受损的光感受器缺陷表明MYRF在视网膜发育中。光转导和雌激素信号通路的改变在连接中起重要作用默夫视网膜光感受器缺陷的缺陷。